chr8:142876299:A>T Detail (hg38) (CYP11B1, LOC106799833)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:143,957,715-143,957,715 View the variant detail on this assembly version. |
| hg38 | chr8:142,876,299-142,876,299 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000497.3:c.896T>A | NP_000488.3:p.Leu299Gln |
| NM_001026213.1:c.896T>A | NP_001021384.1:p.Leu299Gln | |
| Ensemble | ENST00000292427.10:c.896T>A | ENST00000292427.10:p.Leu299Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2023-09-08 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.488 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization i... | BeFree | 18663314 | Detail |
| <0.001 | Virilism | A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization i... | BeFree | 18663314 | Detail |
| 0.008 | 11-Beta-hydroxylase deficiency | A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization i... | BeFree | 18663314 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000497.4(CYP11B1):c.896T>A (p.Leu299Gln) AND not provided | ClinVar | Detail |
| A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals ... | DisGeNET | Detail |
| A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals ... | DisGeNET | Detail |
| A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr8:142,876,299-142,876,299
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121056
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.260639703938672E-6
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